Canonical Allele Identifier: CA595245
Community Standard Title: NM_005957.5(MTHFR):c.1715C>T (p.Pro572Leu)
Gene: MTHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11791244G>A , CM000663.2:g.11791244G>A GRCh38
NC_000001.10:g.11851301G>A , CM000663.1:g.11851301G>A GRCh37
NC_000001.9:g.11773888G>A NCBI36
NG_013351.1:g.19860C>T , LRG_726:g.19860C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005957.5:c.1715C>T MANE Select NP_005948.3:p.Pro572Leu
ENST00000376590.9:c.1715C>T MANE Select ENSP00000365775.3:p.Pro572Leu
NM_001330358.1:c.1838C>T NP_001317287.1:p.Pro613Leu
NM_001330358.2:c.1838C>T NP_001317287.1:p.Pro613Leu
NM_005957.4:c.1715C>T , LRG_726t1:c.1715C>T NP_005948.3:p.Pro572Leu
ENST00000376583.7:c.1838C>T ENSP00000365767.3:p.Pro613Leu
ENST00000376585.5:c.1838C>T ENSP00000365770.1:p.Pro613Leu
ENST00000376585.6:c.1838C>T ENSP00000365770.1:p.Pro613Leu
ENST00000376590.7:c.1715C>T ENSP00000365775.3:p.Pro572Leu
ENST00000376592.5:c.1715C>T ENSP00000365777.1:p.Pro572Leu
ENST00000376592.6:c.1715C>T ENSP00000365777.1:p.Pro572Leu
ENST00000423400.7:c.1835C>T ENSP00000398908.3:p.Pro612Leu
ENST00000641407.1:c.1715C>T ENSP00000493098.1:p.Pro572Leu
ENST00000641446.1:c.*174C>T ENSP00000493262.1:n.*174C>T
ENST00000641747.1:c.*1227C>T ENSP00000493116.1:n.*1227C>T
ENST00000641759.1:n.2084C>T
ENST00000641805.1:n.2232C>T
ENST00000641820.1:c.980C>T ENSP00000492937.1:p.Pro327Leu
XM_005263458.2:c.1838C>T XP_005263515.1:p.Pro613Leu
XM_005263460.3:c.1715C>T XP_005263517.1:p.Pro572Leu
XM_005263460.5:c.1715C>T XP_005263517.1:p.Pro572Leu
XM_005263461.3:c.1715C>T XP_005263518.1:p.Pro572Leu
XM_005263462.3:c.1715C>T XP_005263519.1:p.Pro572Leu
XM_005263462.4:c.1715C>T XP_005263519.1:p.Pro572Leu
XM_005263463.2:c.1469C>T XP_005263520.1:p.Pro490Leu
XM_005263463.4:c.1469C>T XP_005263520.1:p.Pro490Leu
XM_011541495.1:c.1835C>T XP_011539797.1:p.Pro612Leu
XM_011541495.3:c.1835C>T XP_011539797.1:p.Pro612Leu
XM_011541496.1:c.1838C>T XP_011539798.1:p.Pro613Leu
XM_011541496.3:c.1838C>T XP_011539798.1:p.Pro613Leu
XM_017001328.2:c.1838C>T XP_016856817.1:p.Pro613Leu
XM_024447198.1:c.1469C>T XP_024302966.1:p.Pro490Leu
XR_002956640.1:n.2816C>T